Results 231 to 240 of about 293,955 (289)

FTH1‐Related Neuroferritinopathy: A Rare Form of Neurodegeneration with Brain Iron Accumulation Mimicking Pontocerebellar Hypoplasia

Movement Disorders Clinical Practice, EarlyView.
Sayoni Roy Chowdhury, Sangeetha Yoganathan, Vivek Pai, Andrea LeBlanc‐Millar, Vann Chau, Roberto Mendoza‐Londono, Lucie Dupuis, Carolina Gorodetsky   +7 more
wiley   +1 more source

Early and Progressive Spinal Cord Atrophy in Spinocerebellar Ataxia Type 1

Movement Disorders, EarlyView.
Abstract Background Spinocerebellar ataxia type 1 (SCA1) is a rare, autosomal dominant neurodegenerative disorder characterized by progressive cerebellar and brainstem degeneration. Previous studies have shown that spinal cord atrophy is also a key aspect of SCA1 neuropathology.
Colette J.M. Reniers, Teije H. van Prooije, Kirsten C.J. Kapteijns, Jack J.A. van Asten, Caterina Mariotti, Lidia Sarro, Anna Nigri, Marina Grisoli, Giulia Coarelli, Alexandra Durr, Tom Scheenen, Bart van de Warrenburg   +11 more
wiley   +1 more source

Tolvaptan pharmacokinetics and pharmacodynamics in adolescents with autosomal dominant polycystic kidney disease. [PDF]

Eur J Pediatr
Shoaf SE, Sikes K.
europepmc   +1 more source

Reduced Dopamine Transporter Uptake in Dentatorubral‐Pallidoluysian Atrophy

Movement Disorders Clinical Practice, EarlyView.
Kei Okuba, Shugo Fujita, Hitoshi Kawasaki, Genko Oyama   +3 more
wiley   +1 more source

The AudioGene Translational Dashboard for Diagnosing Autosomal Dominant Nonsyndromic Hearing Loss: Phenotypic Data Visualization and Analysis Study. [PDF]

JMIR Bioinform Biotechnol
DeSollar B, Schaefer N, Walls D, Odell AM, Booth KTA, Azaiez H, Schnieders M, Smith RJH, Braun T, Casavant T.   +9 more
europepmc   +1 more source

Novel missense ALDH18A1 variant in a family with autosomal dominant spastic paraplegia. [PDF]

J Neurol
Novarella F, Tessa A, Criscuolo C, Senerchia G, Nicolella V, Trovato R, Falco F, Cocozza S, Scaravilli A, Ruoppolo M, Caterino M, Terracciano D, Castaldo G, Brescia Morra V, Santorelli FM, Moccia M.   +15 more
europepmc   +1 more source